A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623391



Internal ID21571696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221566969..221566969hg38UCSC Ensembl
chr2:222431689..222431689hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111556
SamplesNA19650
Known GenesEPHA4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623391
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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